Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143298del , CM000666.2:g.185143298del | GRCh38 |
| NC_000004.11:g.186064452del , CM000666.1:g.186064452del | GRCh37 |
| NC_000004.10:g.186301446del | NCBI36 |
| NG_013001.1:g.5036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.-75del MANE Select | ENSP00000281456.5:n.-75del | |
| ENST00000281456.10:c.-75del | ENSP00000281456.5:n.-75del | |
| ENST00000491736.1:c.-75del | ENSP00000476711.1:n.-75del | |
| NM_001151.3:c.-75del | NP_001142.2:n.-75del | |
| NM_001151.4:c.-75del MANE Select | NP_001142.2:n.-75del |